Preimplantation genetic diagnosis (PGD) for the breast cancer genes BRCA1/2 is now feasible and established, with good success rates for those treated, according to investigators from the reproduction, oncology and genetics ...

Nuremberg, Germany: The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands ...

The latest advance in prenatal genetic testing purports to offer parents more detailed information than ever about the child they are expecting. But for some, the new answers could lead to another round of questions.

BGI, the world's largest genomics organization, and The Children's Hospital of Philadelphia (CHOP) today announced that they have jointly initiated the 1,000 Rare Diseases Project with the aim of accelerating the discovery ...

The American Academy of Neurology has issued an updated guideline outlining the best treatments for infantile spasms, a rare type of seizure that can occur in infants and young children. The guideline, which was co-developed ...

A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical ...

Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons.

While active monitoring of serum prostate specific antigen (PSA) levels in men over 50 has greatly improved early detection of prostate cancer, prediction of clinical outcomes after diagnosis remains a major challenge. Researchers ...

Research conducted at the Oregon National Primate Research Center at Oregon Health & Science University helps answer some long-standing questions about how certain disease-causing gene mutations are inherited.